Canonical Allele Identifier: CA417063684

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33245700A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780099A>G , CM000663.2:g.32780099A>G	GRCh38
NC_000001.10:g.33245700A>G , CM000663.1:g.33245700A>G	GRCh37
NC_000001.9:g.33018287A>G	NCBI36
NG_008408.1:g.42934T>C , LRG_273:g.42934T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1173T>C	ENSP00000502019.1:p.Leu391=
ENST00000373477.9:c.1320T>C MANE Select	ENSP00000362576.4:p.Leu440=
ENST00000674629.1:c.*868T>C	ENSP00000502470.1:n.*868T>C
ENST00000674654.1:c.*1280T>C	ENSP00000501729.1:n.*1280T>C
ENST00000675785.1:c.1173T>C	ENSP00000502019.1:p.Leu391=
ENST00000676297.1:c.*1494T>C	ENSP00000501596.1:n.*1494T>C
ENST00000373477.8:c.1320T>C	ENSP00000362576.4:p.Leu440=
ENST00000469100.5:n.1236T>C
ENST00000478828.1:n.787T>C
ENST00000487404.5:n.1630T>C
ENST00000490826.1:n.613T>C
NM_003680.3:c.1320T>C , LRG_273t1:c.1320T>C	NP_003671.1:p.Leu440=
XM_011542347.1:c.690T>C	XP_011540649.1:p.Leu230=
XM_011542348.1:c.690T>C	XP_011540650.1:p.Leu230=
XM_011542347.2:c.690T>C	XP_011540649.1:p.Leu230=
XM_017002651.2:c.690T>C	XP_016858140.1:p.Leu230=
NM_003680.4:c.1320T>C MANE Select	NP_003671.1:p.Leu440=